Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21635951C>A , CM000669.2:g.21635951C>A | GRCh38 |
| NC_000007.13:g.21675569C>A , CM000669.1:g.21675569C>A | GRCh37 |
| NC_000007.12:g.21642094C>A | NCBI36 |
| NG_012886.2:g.97737C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001277115.2:c.4581C>A MANE Select | NP_001264044.1:p.Asn1527Lys |
| ENST00000409508.8:c.4581C>A MANE Select | ENSP00000475939.1:p.Asn1527Lys |
| NM_001277115.1:c.4581C>A | NP_001264044.1:p.Asn1527Lys |
| ENST00000328843.10:c.4596C>A | ENSP00000330671.7:p.Asn1532Lys |
| ENST00000409508.7:c.4581C>A | ENSP00000475939.1:p.Asn1527Lys |
| ENST00000465593.1:n.607C>A | |
| ENST00000620169.4:c.4596C>A | ENSP00000481693.1:p.Asn1532Lys |